Low Levels of HDL in Fragile X Syndrome Patients
Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene resulting in the transcriptional silencing of the gene in th...
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| Veröffentlicht in: | Lipids 2016-02, Vol.51 (2), p.189-192 |
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| creator | Lisik, Małgorzata Z Gutmajster, Ewa Sieroń, Aleksander L |
| description | Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene resulting in the transcriptional silencing of the gene in the pathophysiology of Fragile X syndrome was hypothesized. 23 male patients affected by Fragile X syndrome (full mutation in the FMR1 gene) and 24 controls were included in the study. The serum levels of HDL-C were lower in FXS patients (p |
| doi_str_mv | 10.1007/s11745-015-4109-6 |
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The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene resulting in the transcriptional silencing of the gene in the pathophysiology of Fragile X syndrome was hypothesized. 23 male patients affected by Fragile X syndrome (full mutation in the FMR1 gene) and 24 controls were included in the study. The serum levels of HDL-C were lower in FXS patients (p < 0.001). The serum levels triacylglycerols were higher in FXS patients (p = 0.007) Further study involving larger samples are necessary to confirm the results and define the health implications for abnormal lipid levels in FXS patients.</description><identifier>ISSN: 0024-4201</identifier><identifier>EISSN: 1558-9307</identifier><identifier>DOI: 10.1007/s11745-015-4109-6</identifier><identifier>PMID: 26712713</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adult ; autism ; Biomedical and Life Sciences ; blood serum ; Cholesterol - blood ; Fragile X Mental Retardation Protein - genetics ; Fragile X Syndrome - blood ; Fragile X Syndrome - genetics ; Fragile X Syndrome - pathology ; gene silencing ; General area, HDL ; genes ; high density lipoprotein ; Humans ; Life Sciences ; Lipid biochemistry ; Lipidology ; Lipoproteins ; Lipoproteins, HDL - blood ; Lipoproteins, HDL - genetics ; Lipoproteins, LDL ; Lipoproteins, LDL - blood ; Lipoproteins, LDL - genetics ; Male ; males ; Medical Biochemistry ; Medicinal Chemistry ; Microbial Genetics and Genomics ; Mutation ; Neurochemistry ; Nutrition ; Original ; Original Article ; pathophysiology ; patients ; promoter regions ; transcription (genetics) ; triacylglycerols ; Triglycerides - blood</subject><ispartof>Lipids, 2016-02, Vol.51 (2), p.189-192</ispartof><rights>The Author(s) 2015</rights><rights>2016 American Oil Chemists' Society (AOCS)</rights><rights>AOCS 2016</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c7119-df573ba412ca3c5a57f7529484c9cdb6fa3b847fe1ce5d08d650869a0b6504423</citedby><cites>FETCH-LOGICAL-c7119-df573ba412ca3c5a57f7529484c9cdb6fa3b847fe1ce5d08d650869a0b6504423</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11745-015-4109-6$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11745-015-4109-6$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>230,314,778,782,883,1414,27907,27908,41471,42540,45557,45558,51302</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26712713$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lisik, Małgorzata Z</creatorcontrib><creatorcontrib>Gutmajster, Ewa</creatorcontrib><creatorcontrib>Sieroń, Aleksander L</creatorcontrib><title>Low Levels of HDL in Fragile X Syndrome Patients</title><title>Lipids</title><addtitle>Lipids</addtitle><addtitle>Lipids</addtitle><description>Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene resulting in the transcriptional silencing of the gene in the pathophysiology of Fragile X syndrome was hypothesized. 23 male patients affected by Fragile X syndrome (full mutation in the FMR1 gene) and 24 controls were included in the study. The serum levels of HDL-C were lower in FXS patients (p < 0.001). The serum levels triacylglycerols were higher in FXS patients (p = 0.007) Further study involving larger samples are necessary to confirm the results and define the health implications for abnormal lipid levels in FXS patients.</description><subject>Adult</subject><subject>autism</subject><subject>Biomedical and Life Sciences</subject><subject>blood serum</subject><subject>Cholesterol - blood</subject><subject>Fragile X Mental Retardation Protein - genetics</subject><subject>Fragile X Syndrome - blood</subject><subject>Fragile X Syndrome - genetics</subject><subject>Fragile X Syndrome - pathology</subject><subject>gene silencing</subject><subject>General area, HDL</subject><subject>genes</subject><subject>high density lipoprotein</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Lipid biochemistry</subject><subject>Lipidology</subject><subject>Lipoproteins</subject><subject>Lipoproteins, HDL - blood</subject><subject>Lipoproteins, HDL - genetics</subject><subject>Lipoproteins, LDL</subject><subject>Lipoproteins, LDL - blood</subject><subject>Lipoproteins, LDL - genetics</subject><subject>Male</subject><subject>males</subject><subject>Medical Biochemistry</subject><subject>Medicinal Chemistry</subject><subject>Microbial Genetics and Genomics</subject><subject>Mutation</subject><subject>Neurochemistry</subject><subject>Nutrition</subject><subject>Original</subject><subject>Original Article</subject><subject>pathophysiology</subject><subject>patients</subject><subject>promoter regions</subject><subject>transcription (genetics)</subject><subject>triacylglycerols</subject><subject>Triglycerides - blood</subject><issn>0024-4201</issn><issn>1558-9307</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>24P</sourceid><sourceid>WIN</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkk9rFTEUxYMo9ln7AdzogBs3Y-_N_2wEaa0tDLRQC92FTCbznDJvUpP3Wt63N4-ppbqw2SQhv3Nyc08IeYfwGQHUYUZUXNSAouYIppYvyAKF0LVhoF6SBQDlNaeAe-RNzjdli9yI12SPSoVUIVsQaOJ91YS7MOYq9tXpcVMNU3WS3HIYQ3VdXW6nLsVVqC7cegjTOr8lr3o35nDwMO-Tq5NvP45O6-b8-9nR16b2CtHUXS8Uax1H6h3zwgnVK0EN19wb37Wyd6zVXPUBfRAd6E4K0NI4aMuCc8r2yZfZ93bTrkLny93JjfY2DSuXtja6wf59Mg0_7TLeWa6YoEwXg08PBin-2oS8tqsh-zCObgpxky2FMqTU-DyKSlLGuQAs6Md_0Ju4SVPpxI5CKYSkolA4Uz7FnFPoH-tGsLvo7BydLdHZXXRWFs37pw9-VPzJqgBqBu5LNNvnHW1zdnEMqE1R0lmZi2hahvSk6P_U82EW9S5at0xDtleX5S_JXduM1Iz9BjLeumY</recordid><startdate>201602</startdate><enddate>201602</enddate><creator>Lisik, Małgorzata Z</creator><creator>Gutmajster, Ewa</creator><creator>Sieroń, Aleksander L</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>FBQ</scope><scope>C6C</scope><scope>24P</scope><scope>WIN</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7T7</scope><scope>7TK</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BKSAR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>P64</scope><scope>PCBAR</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>7S9</scope><scope>L.6</scope><scope>5PM</scope></search><sort><creationdate>201602</creationdate><title>Low Levels of HDL in Fragile X Syndrome Patients</title><author>Lisik, Małgorzata Z ; Gutmajster, Ewa ; Sieroń, Aleksander L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c7119-df573ba412ca3c5a57f7529484c9cdb6fa3b847fe1ce5d08d650869a0b6504423</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adult</topic><topic>autism</topic><topic>Biomedical and Life Sciences</topic><topic>blood serum</topic><topic>Cholesterol - blood</topic><topic>Fragile X Mental Retardation Protein - genetics</topic><topic>Fragile X Syndrome - blood</topic><topic>Fragile X Syndrome - genetics</topic><topic>Fragile X Syndrome - pathology</topic><topic>gene silencing</topic><topic>General area, HDL</topic><topic>genes</topic><topic>high density lipoprotein</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Lipid biochemistry</topic><topic>Lipidology</topic><topic>Lipoproteins</topic><topic>Lipoproteins, HDL - blood</topic><topic>Lipoproteins, HDL - genetics</topic><topic>Lipoproteins, LDL</topic><topic>Lipoproteins, LDL - blood</topic><topic>Lipoproteins, LDL - genetics</topic><topic>Male</topic><topic>males</topic><topic>Medical Biochemistry</topic><topic>Medicinal Chemistry</topic><topic>Microbial Genetics and Genomics</topic><topic>Mutation</topic><topic>Neurochemistry</topic><topic>Nutrition</topic><topic>Original</topic><topic>Original Article</topic><topic>pathophysiology</topic><topic>patients</topic><topic>promoter regions</topic><topic>transcription (genetics)</topic><topic>triacylglycerols</topic><topic>Triglycerides - blood</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lisik, Małgorzata Z</creatorcontrib><creatorcontrib>Gutmajster, Ewa</creatorcontrib><creatorcontrib>Sieroń, Aleksander L</creatorcontrib><collection>AGRIS</collection><collection>Springer Nature OA Free Journals</collection><collection>Wiley-Blackwell Open Access Titles</collection><collection>Wiley Free Content</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection (ProQuest)</collection><collection>Earth, Atmospheric & Aquatic Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Earth, Atmospheric & Aquatic Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>AGRICOLA</collection><collection>AGRICOLA - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Lipids</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lisik, Małgorzata Z</au><au>Gutmajster, Ewa</au><au>Sieroń, Aleksander L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Low Levels of HDL in Fragile X Syndrome Patients</atitle><jtitle>Lipids</jtitle><stitle>Lipids</stitle><addtitle>Lipids</addtitle><date>2016-02</date><risdate>2016</risdate><volume>51</volume><issue>2</issue><spage>189</spage><epage>192</epage><pages>189-192</pages><issn>0024-4201</issn><eissn>1558-9307</eissn><abstract>Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene resulting in the transcriptional silencing of the gene in the pathophysiology of Fragile X syndrome was hypothesized. 23 male patients affected by Fragile X syndrome (full mutation in the FMR1 gene) and 24 controls were included in the study. The serum levels of HDL-C were lower in FXS patients (p < 0.001). The serum levels triacylglycerols were higher in FXS patients (p = 0.007) Further study involving larger samples are necessary to confirm the results and define the health implications for abnormal lipid levels in FXS patients.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>26712713</pmid><doi>10.1007/s11745-015-4109-6</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult autism Biomedical and Life Sciences blood serum Cholesterol - blood Fragile X Mental Retardation Protein - genetics Fragile X Syndrome - blood Fragile X Syndrome - genetics Fragile X Syndrome - pathology gene silencing General area, HDL genes high density lipoprotein Humans Life Sciences Lipid biochemistry Lipidology Lipoproteins Lipoproteins, HDL - blood Lipoproteins, HDL - genetics Lipoproteins, LDL Lipoproteins, LDL - blood Lipoproteins, LDL - genetics Male males Medical Biochemistry Medicinal Chemistry Microbial Genetics and Genomics Mutation Neurochemistry Nutrition Original Original Article pathophysiology patients promoter regions transcription (genetics) triacylglycerols Triglycerides - blood |
| title | Low Levels of HDL in Fragile X Syndrome Patients |
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